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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3926 - 3950** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	ICAM1 IL1R1 PSMD10 PTGS2 TLR2 TLR4 TNF TP53	3383 3554 5716 5743 7097 7099 7124 7157	Homo sapiens (human)
DOID:7849	dendritic cell sarcoma	SLC35B2	347734	Homo sapiens (human)
DOID:9809	hypersensitivity vasculitis	ABO ACE B3GAT1 B4GALNT1 C1GALT1 CPT1C CYP19A1 CYP2U1 CYP7B1 FCGR3B GBA2 ICAM1 L1CAM MBL2 MGAT5 NAAA PARP1 PLA2G6 PLD3 PNPLA6 SLC33A1	10908 113612 126129 142 1588 1636 2215 23646 2583 27087 27163 28 3383 3897 4153 4249 56913 57704 8398 9197 9420	Homo sapiens (human)
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)
DOID:4028	angioma serpiginosum Aliases: Angioma serpiginosum of skin	ACE ATP6AP2 ATP6V1A C1GALT1C1 MAG PIK3CA PIK3CB PIK3CD PIK3CG PTEN SRD5A3	10159 1636 29071 4099 523 5290 5291 5293 5294 5728 79644	Homo sapiens (human)
DOID:0050598	extrapulmonary tuberculosis	CD209	30835	Homo sapiens (human)
DOID:12986	leukostasis	ACE ALOX15 ICAM1 PNPLA2 VCAM1	1636 246 3383 57104 7412	Homo sapiens (human)
DOID:1557	hypersensitivity reaction type III disease Aliases: immune complex disease	CD22 MASP2	10747 933	Homo sapiens (human)
DOID:4944	gastroesophageal junction adenocarcinoma Aliases: adenocarcinoma of Cardioesophageal junction	HPGDS NEU1 PTEN PTGS2 SMUG1	23583 27306 4758 5728 5743	Homo sapiens (human)
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	ACE CHPT1 DHDDS DLAT DLD ECHS1 OGDH PC PCK1 PCK2 PDHA1 PDHA2 PDHB PDHX	1636 1737 1738 1892 4967 5091 5105 5106 5160 5161 5162 56994 79947 8050	Homo sapiens (human)
DOID:0070025	X-linked dyskeratosis congenita Aliases: DKCX Zinsser-Cole-Engman syndrome	GALNT3 GOLPH3	2591 64083	Homo sapiens (human)
DOID:7912	mixed oligodendroglioma-astrocytoma Aliases: WHO grade II mixed glioma	ACLY CAT CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGS2 SDHB STS SULT1E1 UGT8	10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 412 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 847 8605 960	Homo sapiens (human)
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	APEX1 GPX3 RBP4	2878 328 5950	Homo sapiens (human)
DOID:0060368	Parkinson's disease 2 Aliases: autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile Parkinson's disease 2	CNTN5 CNTN6 GBA1 PARP1 SYNJ1	142 2629 27255 53942 8867	Homo sapiens (human)
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	LARGE1	9215	Homo sapiens (human)
DOID:0110565	autosomal dominant nonsyndromic deafness 3B Aliases: DFNA3B autosomal dominant deafness 3B	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)
DOID:12559	idiopathic juvenile osteoporosis Aliases: Idiopathic osteoporosis juvenile osteoporosis	CYP19A1 LRP5	1588 4041	Homo sapiens (human)
DOID:0080505	Cornelia de Lange syndrome 1	ARSD GALNT14 SMC3 TNKS	414 79623 8658 9126	Homo sapiens (human)
DOID:0111393	mucopolysaccharidosis type IIIC Aliases: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C)	EXTL2 EXTL3 GNS HGSNAT NAGLU SGSH	138050 2135 2137 2799 4669 6448	Homo sapiens (human)
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ABO ACACA ACE AGPAT2 AKR1C3 AKT1 ALOX5 ALPI ALPP ANXA5 B3GAT1 B4GALT1 CALR CAT CD14 CD177 CD33 CD38 CD44 CD55 CDH13 CEACAM5 CLEC12A CYP1A1 CYP2B6 CYP2C8 CYP3A4 CYP3A5 EBP ETNK1 FCGR3B FOLR2 FUT1 FUT4 FUT8 G6PD GPI GPX1 GPX3 GUSB HK2 HMGCLL1 HMMR HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IL18R1 IL1RAP IMPA1 INPP5D INPPL1 KLRC1 LGALS3 LGALS9 LTA4H LTC4S MICA MRC1 NCAM1 PARP1 PCYT1A PFKFB3 PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCD1 PRKAA2 PTEN PTGS1 PTGS2 SELL SFTPA1 SOAT1 ST3GAL1 ST8SIA1 ST8SIA4 TKT TKTL1 TPI1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UNG	100507436 1012 1048 10555 10682 10855 142 1543 1555 1558 1576 1577 160364 1604 1636 207 2215 2350 240 248 250 2523 2526 2530 2539 2683 27087 27306 28 2821 283871 2876 2878 2990 308 3099 31 3161 3251 3339 3383 3417 3418 3556 3612 3635 3636 3821 3958 3965 4048 4056 4360 4684 5130 5209 5290 5291 5293 5294 5315 5333 54511 54575 54576 54577 54578 54657 54658 55300 55500 5563 57126 5728 5742 5743 6402 6482 6489 653509 6646 7086 7167 7374 7903 811 8277 847 8644 8809 929 945 952 960	Homo sapiens (human)
DOID:0080220	obsolete major affective disorder 1	ACE COMT DGKH GAD1 IMPA2 NCAM1 NPL PFKL PIP4K2A PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 SMPD1	1312 151056 160851 1636 2571 3613 4684 5211 5305 5320 5321 6609 80896 8398 8399	Homo sapiens (human)
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	PIK3CA PIK3CB PIK3CD PIK3CG VNN1	5290 5291 5293 5294 8876	Homo sapiens (human)
DOID:12306	vitiligo	ABO ACE ACHE ALOX12 C1GALT1C1 CALR3 CALR CANX CAT CBR1 CD44 COMT CYP21A2 FADS1 FADS2 G6PD GPX1 HPGDS ICAM1 IL1RAPL1 ISYNA1 KLRC1 MBL2 NEU1 PARP12 PARP1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PLCB3 PLCG2 PRNP PTGS2 SOAT1 TLR2 TLR4 TNF	11141 125972 1312 142 1589 1636 239 2539 27306 28 283871 2876 29071 3383 3821 3992 4153 43 4758 51477 5226 5290 5291 5293 5294 5331 5336 5621 5743 64761 6646 7097 7099 7124 811 821 847 873 9415 960	Homo sapiens (human)
DOID:3864	adult medulloblastoma Aliases: adult brain medulloblastoma	ACHE ALOX5 APRT ASAH1 CALR CANX CD1D CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 FOLR1 FUT4 GPC3 GYS2 HK2 HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MMUT NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TREH VCAN	10855 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2348 240 2526 27036 2719 27306 2998 3099 3417 3418 3425 353 3939 3945 427 43 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 79947 811 821 8658 912	Homo sapiens (human)

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